Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD

Willemijn J. Van Rijt; M. Rebecca Heiner-Fokkema; Gideon J. du Marchie Sarvaas; Hans R. Waterham; Robert G. T. Blokpoel; Francjan J. van Spronsen; Terry G. J. Derks

doi:10.1542/peds.2013-4254

Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD

Willemijn J. Van Rijt, M. Rebecca Heiner-Fokkema, Gideon J. du Marchie Sarvaas, Hans R. Waterham, Robert G. T. Blokpoel, Francjan J. van Spronsen, Terry G. J. Derks^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

Multiple acyl coenzyme A dehydrogenase deficiency (MADD) is a severe inborn error of metabolism. Experiences with sodium-D,L-3-hydroxybutyrate (3-HB) treatment are limited although positive; however, the general view on outcome of severely affected patients with MADD is relatively pessimistic. Here we present an infant with MADD in whom the previously reported dose of 3-HB did not prevent the acute, severe, metabolic decompensation or progressive cardiomyopathy in the subsequent months. Only after a physiologic dose of 2600 mg/kg of 3-HB per day were ketone bodies detected in blood associated with improvement of the clinical course, N-terminal prohormone of brain natriuretic peptide and echocardiographic parameters. Long-term studies are warranted on 3-HB treatment in patients with MADD.

Original language	English
Pages (from-to)	e1224-e1228
Number of pages	5
Journal	Pediatrics
Volume	134
Issue number	4
DOIs	https://doi.org/10.1542/peds.2013-4254
Publication status	Published - Oct-2014

Keywords

multiple acyl coenzyme A dehydrogenase deficiency
mitochondrial fatty acid oxidation
cardiomyopathy
sodium-D,L-3-hydroxybutyrate
COA-DEHYDROGENASE-DEFICIENCY
TANDEM MASS-SPECTROMETRY
CHILDREN

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Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrateFinal publisher's version, 440 KBLicence: Taverne

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@article{0f2d280b480b4c578789988f261bf62e,

title = "Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD",

abstract = "Multiple acyl coenzyme A dehydrogenase deficiency (MADD) is a severe inborn error of metabolism. Experiences with sodium-D,L-3-hydroxybutyrate (3-HB) treatment are limited although positive; however, the general view on outcome of severely affected patients with MADD is relatively pessimistic. Here we present an infant with MADD in whom the previously reported dose of 3-HB did not prevent the acute, severe, metabolic decompensation or progressive cardiomyopathy in the subsequent months. Only after a physiologic dose of 2600 mg/kg of 3-HB per day were ketone bodies detected in blood associated with improvement of the clinical course, N-terminal prohormone of brain natriuretic peptide and echocardiographic parameters. Long-term studies are warranted on 3-HB treatment in patients with MADD.",

keywords = "multiple acyl coenzyme A dehydrogenase deficiency, mitochondrial fatty acid oxidation, cardiomyopathy, sodium-D,L-3-hydroxybutyrate, COA-DEHYDROGENASE-DEFICIENCY, TANDEM MASS-SPECTROMETRY, CHILDREN",

author = "{Van Rijt}, {Willemijn J.} and Heiner-Fokkema, {M. Rebecca} and Sarvaas, {Gideon J. du Marchie} and Waterham, {Hans R.} and Blokpoel, {Robert G. T.} and {van Spronsen}, {Francjan J.} and Derks, {Terry G. J.}",

note = "Copyright {\textcopyright} 2014 by the American Academy of Pediatrics.",

year = "2014",

month = oct,

doi = "10.1542/peds.2013-4254",

language = "English",

volume = "134",

pages = "e1224--e1228",

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publisher = "AMER ACAD PEDIATRICS",

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T1 - Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD

AU - Van Rijt, Willemijn J.

AU - Heiner-Fokkema, M. Rebecca

AU - Sarvaas, Gideon J. du Marchie

AU - Waterham, Hans R.

AU - Blokpoel, Robert G. T.

AU - van Spronsen, Francjan J.

AU - Derks, Terry G. J.

PY - 2014/10

Y1 - 2014/10

N2 - Multiple acyl coenzyme A dehydrogenase deficiency (MADD) is a severe inborn error of metabolism. Experiences with sodium-D,L-3-hydroxybutyrate (3-HB) treatment are limited although positive; however, the general view on outcome of severely affected patients with MADD is relatively pessimistic. Here we present an infant with MADD in whom the previously reported dose of 3-HB did not prevent the acute, severe, metabolic decompensation or progressive cardiomyopathy in the subsequent months. Only after a physiologic dose of 2600 mg/kg of 3-HB per day were ketone bodies detected in blood associated with improvement of the clinical course, N-terminal prohormone of brain natriuretic peptide and echocardiographic parameters. Long-term studies are warranted on 3-HB treatment in patients with MADD.

AB - Multiple acyl coenzyme A dehydrogenase deficiency (MADD) is a severe inborn error of metabolism. Experiences with sodium-D,L-3-hydroxybutyrate (3-HB) treatment are limited although positive; however, the general view on outcome of severely affected patients with MADD is relatively pessimistic. Here we present an infant with MADD in whom the previously reported dose of 3-HB did not prevent the acute, severe, metabolic decompensation or progressive cardiomyopathy in the subsequent months. Only after a physiologic dose of 2600 mg/kg of 3-HB per day were ketone bodies detected in blood associated with improvement of the clinical course, N-terminal prohormone of brain natriuretic peptide and echocardiographic parameters. Long-term studies are warranted on 3-HB treatment in patients with MADD.

KW - multiple acyl coenzyme A dehydrogenase deficiency

KW - mitochondrial fatty acid oxidation

KW - cardiomyopathy

KW - sodium-D,L-3-hydroxybutyrate

KW - COA-DEHYDROGENASE-DEFICIENCY

KW - TANDEM MASS-SPECTROMETRY

KW - CHILDREN

U2 - 10.1542/peds.2013-4254

DO - 10.1542/peds.2013-4254

M3 - Article

C2 - 25246622

SN - 0031-4005

VL - 134

SP - e1224-e1228

JO - Pediatrics

JF - Pediatrics

IS - 4

ER -

Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD

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Keywords

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